Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002441381 | SCV002746106 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-09-08 | criteria provided, single submitter | clinical testing | The p.S930* variant (also known as c.2789C>A), located in coding exon 18 of the BRIP1 gene, results from a C to A substitution at nucleotide position 2789. This changes the amino acid from a serine to a stop codon within coding exon 18. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Invitae | RCV003102216 | SCV003325420 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2022-03-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser930*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Myriad Genetics, |
RCV003336746 | SCV004044162 | pathogenic | Familial cancer of breast | 2023-06-07 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003336746 | SCV004217140 | likely pathogenic | Familial cancer of breast | 2023-03-24 | criteria provided, single submitter | clinical testing |